Types of Clinical Report

3 Types of Clinical Diagnosis Reports for Exomes

Type 1: Standard Clinical Diagnosis Report:

  1. Mutations in recessive disease gene(s) related to clinical phenotype
  2. Mutations in recessive disease gene(s) unrelated to clinical phenotype
  3. Heterozygous mutations in Autosomal dominant genes
  4. Mutations in x-Linked genes
  5. Mitochondrial DNA variants


Type 2: Full Clinical Diagnosis Report:

  1. Carrier status for recessive Mendelian Disorders Pharmacogenetic results
  2. As per standard report but also including all variants in OMIM


Type 3: Multi-sample Analysis Report:

  1. Combine data from parents and other relatives
  2. Optional population analysis to extend multiple affected individuals and population groups

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